SPRED1

Chr 15q14

sprouty related EVH1 domain containing 1

Aliases:: FLJ33903, PPP1R147, SPRED-1
MANE:: ENST00000299084.9

OMIM: 609291 ↗NCBI: 161742 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

SPRED1 · Q7Z699

v62025-08-01

Predicted Aligned Error matrix for SPRED1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

63.8/ 100

Low

444 residues

Confidence breakdown

Very high(≥ 90)20%
Confident(70–90)29%
Low(50–70)7%
Very low(< 50)44%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mosaic skin disorders - deep sequencing
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurofibromatosis Type 1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurofibromatosis type 1 (GMS)
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pigmentary skin disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary lymphoedema
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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Disease associations (Open Targets)

Legius syndrome
0.83
Abnormality of the cardiovascular system
0.54
Noonan syndrome and Noonan-related syndrome
0.53
neurofibromatosis type 1
0.48
Abnormality of the skeletal system
0.46
hereditary disease
0.41
neurofibromatosis-Noonan syndrome
0.40
cancer
0.38
Neurodevelopmental delay
0.34
Male infertility with spermatogenesis disorder
0.34

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Sprouty-related, EVH1 domain-containing protein 1

Tyrosine kinase substrate that inhibits growth-factor-mediated activation of MAP kinase (By similarity). Negatively regulates hematopoiesis of bone marrow (By similarity). Inhibits fibroblast growth factor (FGF)-induced retinal lens fiber differentiation, probably by inhibiting FGF-mediated phosphorylation of ERK1/2 (By similarity). Attenuates actin stress fiber formation via inhibition of TESK1-mediated phosphorylation of cofilin (PubMed:18216281). Inhibits TGFB-induced epithelial-to-mesenchymal transition in lens epithelial cells (By similarity)